Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in  NEFH | Zendy

Aruta Francesco | Zendy; Severi Daniele | Zendy; Iovino Aniello | Zendy; Spina Emanuele | Zendy; Barghigiani Melissa | Zendy; Ruggiero Lucia | Zendy; Iodice Rosa | Zendy; Santorelli Filippo Maria | Zendy; Manganelli Fiore | Zendy; Tozza Stefano | Zendy

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Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH

Author(s) -

Aruta Francesco,

Severi Daniele,

Iovino Aniello,

Spina Emanuele,

Barghigiani Melissa,

Ruggiero Lucia,

Iodice Rosa,

Santorelli Filippo Maria,

Manganelli Fiore,

Tozza Stefano

Publication year - 2021

Publication title -

journal of the peripheral nervous system

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1

H-Index - 67

eISSN - 1529-8027

pISSN - 1085-9489

DOI - 10.1111/jns.12454

Subject(s) - frameshift mutation , medicine , motor neuron , weakness , neuroscience , physical medicine and rehabilitation , gene , genetics , anatomy , biology , pathology , disease , mutation

Charcot‐Marie‐Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain ( NEFH ) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH . In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory‐motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.

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